Screening for structural fetal anomalies during the nuchal translucency ultrasound examination

Weiner, Zeev; Goldstein, Israel; Bombard, Allan T.; Applewhite, Liat; Itzkovits-Eldor, Joseph

doi:10.1016/j.ajog.2007.03.057

Cited by 31 publications

(17 citation statements)

References 15 publications

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“…The first‐trimester detection rate of 49% for major structural anomalies was substantially higher than the 29% obtained in a recent systematic review of all reported series during the 2002–2008 period2 and similar to the 44% reported in a recent large study4. Reported series, however, showed a remarkable variability in detection, given that the rates ranged from 18% to 71%18–25. The two main factors accounting for a major part of this variability were differences in the inclusion criteria for anomalies and in the type and length of postnatal follow up.…”

Section: Discussionsupporting

confidence: 51%

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

Grande

Arigita

Borobio

et al. 2012

Ultrasound in Obstet & Gyne

102

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Section: Discussionsupporting

confidence: 51%

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

Grande

Arigita

Borobio

et al. 2012

Ultrasound in Obstet & Gyne

102

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“…This result was different from those of Souka et al [28] and Weiner et al [29] who detected half of major structural defects (included cleft-lip, ventricular megaly and abnormal posterior fossa, heart anomaly) by using both of transabdominal and transvaginal scanning in low-risk pregnancies. Because of the cultural reason, or some of misconceptions that transvaginal scanning may cause miscarriage, our pregnant women refused an ultrasonographic examination transvaginally.…”

Section: Discussioncontrasting

confidence: 56%

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

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Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.

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Section: Discussionmentioning

confidence: 99%

“…In a different approach, Weiner et al 19 in 2007 suggested that the nuchal translucency (NT) examination be used as a screening test for patients requiring an early fetal anatomy scan. Adding fetal echocardiography whenever increased NT was noted, they concluded that almost 50% of detectable fetal anomalies can be diagnosed at this early stage of pregnancy, without performing a routine early anatomy scan in all patients19. In a randomized controlled trial of 39 572 women to compare the early and the 18‐week scan, Saltvedt et al 20 concluded that neither of these two strategies is clearly superior to the other for prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Author's reply: Surgical-site infection (Br J Surg 2010; 97: 1601–1602)

Leaper

2011

British Journal of Surgery

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Objectives To assess the potential value of an early (first‐trimester) ultrasound examination in depicting fetal anomalies by transabdominal (TAS) and transvaginal (TVS) sonography, to compare it with the traditional mid‐trimester anomaly ultrasound examination and to evaluate the degree of patient acceptance of early sonography by the transvaginal route. Methods In this prospective study over a 5‐year period (January 2002 to January 2007) 2876 pregnant women underwent a 13–14‐week ultrasound examination. The scan was performed by TAS at first and then, if a full fetal anatomical survey was not achieved, by TVS. A mid‐trimester fetal anatomy scan was then performed in patients who had not dropped out, miscarried or undergone pregnancy termination (n = 2834). Results In the early scan, analyzable data for 2876 TAS and 1357 TVS examinations showed that TVS was significantly better in visualizing the cranium, spine, stomach, kidneys, bladder and upper and lower limbs (P < 0.001). Complete fetal anatomical surveys were achieved by TAS in 64% of cases versus 82% of the cases in which it was attempted by TVS (P < 0.001). Patient body mass index significantly affected the ability of the sonographer to achieve a complete anatomical survey by both TAS and TVS (P < 0.001 and P = 0.004, respectively). The duration of the scan was significantly longer using TVS. The heart and kidneys were not properly visualized in 42% and 27% of cases, respectively, at the 13‐week scan compared with 1.6% and 0% at the mid‐trimester scan. The total number of cases in which anomalies were detected was 31. At the first‐trimester scan, anomalies were detected in 21 fetuses and in 14 of these cases the parents chose pregnancy termination. At the second‐trimester scan, anomalies were detected in 17 fetuses: 10 new anomalous cases along with seven cases already detected in the first‐trimester scan. Conclusion Besides its importance in screening for chromosomal abnormalities, the early scan has great potential in visualizing with precision fetal anatomy. TVS can be used to compliment difficult TAS examinations; however, patients do not always agree to undergo TVS. The mid‐trimester scan remains crucial for detailed fetal anatomical survey. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

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Screening for structural fetal anomalies during the nuchal translucency ultrasound examination

Cited by 31 publications

References 15 publications

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Author's reply: Surgical-site infection (Br J Surg 2010; 97: 1601–1602)

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